title: The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.
abstract: Contribution of mass spectrometry (MS) in the diagnosis and characterization of congenital disorders of glycosylation (CDG) has long been known. CDG type I diseases are characterized by the under-occupancy of protein N-glycosylation sites. Electrospray (ESI) MS and matrix assisted laser desorption ionization (MALDI) MS are effective for underglycosylation analyses of intact serum Transferrin (Tf) in CDG-I patients by mass determination of individual component glycoforms. Thus, high-throughput methods developed to speed-up analytical times found increasing application in clinical testing for CDG detection. ESI MS recognizable glycoform profiles of serum Tf have been reported in CDG-I different from PMM2-CDG and in individual CDG-II defects. MALDI MS analysis of acidic and neutral N-linked glycans released from total plasma or targeted glycoproteins, is the mainstream tool to explore abnormal oligosaccharide structure and changes in the relative amount of individual oligosaccharides in CDG-II patients. Here we briefly review state-of-the-art and updates of MS-based applications for the diagnosis of CDG with special emphasis to detectable glycosylation profiles reported in different CDG types.
authors.affiliation: CNR - Institute of Chemistry and Technology of Polymers, Via P. Gaifami 18, 95126, Catania, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Sturiale
authors.forename: Rita
authors.initials: R
authors.lastname: Barone
authors.forename: Domenico
authors.initials: D
authors.lastname: Garozzo
mesh_terms: D001826:Body Fluids / Q000737:chemistry / Q000378:metabolism; D018981:Congenital Disorders of Glycosylation / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D013058:Mass Spectrometry / Q000379:methods*; D055442:Metabolome; D008954:Models, Biological; D009154:Mutation / Q000502:physiology; D011499:Protein Processing, Post-Translational / Q000235:genetics